| Tbio | Sodium/potassium/calcium exchanger 1 |
Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).
This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Night blindness, congenital stationary | 16 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ependymoma | 4679 | 2.9e-07 |
| osteosarcoma | 7950 | 5.6e-06 |
| glioblastoma | 5792 | 1.3e-04 |
| lung cancer | 4740 | 4.4e-04 |
| group 4 medulloblastoma | 1855 | 6.0e-04 |
| medulloblastoma, large-cell | 6241 | 6.8e-04 |
| adult high grade glioma | 3801 | 2.7e-03 |
| subependymal giant cell astrocytoma | 2287 | 2.6e-02 |
| non primary Sjogren syndrome sicca | 891 | 2.8e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Congenital stationary night blindness 1B | 6 | 0.0 | 5.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Brain Ischemia | 110 | 3.434 | 1.7 |
| Disease | Target Count |
|---|---|
| Congenital stationary night blindness | 29 |
| Night Blindness, Congenital Stationary, Type 1D | 1 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | 1.100 | 2.7e-03 |
| ependymoma | 1.300 | 2.9e-07 |
| glioblastoma | 1.100 | 1.3e-04 |
| group 4 medulloblastoma | 1.300 | 6.0e-04 |
| lung cancer | -2.100 | 4.4e-04 |
| medulloblastoma, large-cell | 1.100 | 6.8e-04 |
| non primary Sjogren syndrome sicca | -1.100 | 2.8e-02 |
| osteosarcoma | -2.058 | 5.6e-06 |
| subependymal giant cell astrocytoma | 1.285 | 2.6e-02 |
MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSE 1 - 70 EMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERR 71 - 140 KEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMET 141 - 210 SHAITPRTTVKDSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNN 211 - 280 LFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSP 281 - 350 RTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEEL 351 - 420 SPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQI 421 - 490 SEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVIGTCSLFSREILNLTWWPLFR 491 - 560 DVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTMKWNKHIEVWVKEQLSRRPVAKVMALEDLSK 561 - 630 PGDGAIAVDELQDNKKLKLPSLLTRGSSSTSLHNSTIRSTIYQLMLHSLDPLREVRLAKEKEEESLNQGA 631 - 700 RAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETE 701 - 770 EKSGGETQPEGEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGE 771 - 840 AKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDWPETRQKQAI 841 - 910 YLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAHQVGETIGISEEIMGLTILAA 911 - 980 GTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPVPWLLFSLINGLQPVPVSSNGLFCAIVLLFL 981 - 1050 MLLFVISSIASCKWRMNKILGFTMFLLYFVFLIISVMLEDRIISCPVSV 1051 - 1099 //
